Version: 8.0.0
Date: Tue Jan 28 2025
syndromic X-linked intellectual disability 94
DOID:0060823
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

syndromic X-linked intellectual disability 94

Definition
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.
Synonyms
  • mental retardation, X-linked 94
  • MRX94
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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